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中文
在瑞典的一个易感家族中最初发现的内含子中插入的neo cassette和两个错义突变（K670N和M671L）通过同源重组被导入第16号外显子。通过western blot分析，我们检测到了突变蛋白，结果显示其相对于去除了neo cassette的Apptm1.1Cep，水平降低了30%至50%。（来源：J:35500）
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
